Is it Asthma? Or Alpha-1?
Alpha what?
Alpha-1.
Never heard of it? Well, most people haven't.
I was listening to a presentation at a pre-COVID national asthma conference, and the doctor had a slide titled, "Everything that wheezes is not asthma." Hmmmm. She explained that there are many other diseases that look and sound like asthma. One of them was alpha-1 (or, to be more precise, alpha-1 antitrypsin deficiency).
Fasten your seat belts. We are going to have a little science lesson today and I'll try to keep it simple!
What is Alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency is caused by an abnormal gene. If both the mom and dad have that abnormal gene, they can pass it to their children. Alpha-1 is caused by a lack of a protein in the blood, called alpha-1 antitrypsin. The protein is made in the liver and it protects the lungs from inflammation. But alpha-1 can accumulate in the liver and damage it. That buildup in the liver doesn't allow enough of the protein to get into the blood - so it can't protect the lungs.1
Alpha-1 can be misdiagnosed as asthma, because they both have some of the same symptoms:1
- Shortness of breath
- Hard time exercising
- Wheezing
Sounds a bit like asthma, right? But with alpha-1, you can also have frequent respiratory infections, unintended weight loss, rapid heartbeat when they stand up, and fatigue.2 You can also have chronic bronchitis, allergies year-round, and bronchiectasis.1
Long-term effects
Sadly, alpha-1 can damage the alveoli (the small air sacs in the lungs). That damage can lead to emphysema - which causes a hacking cough, a hard time breathing, and a barrel-shaped chest.2
When alpha-1 affects the liver, you can have jaundice (where the skin has a yellow color and the whites of the eyes have a yellow color). Just like the lasting damage to the lungs, it can cause lasting damage to the liver. That scar tissue can lead to cirrhosis of the liver - which can cause swelling in the feet or legs, swelling in the stomach, and a barrel chest. It can also cause a certain type of liver cancer.2
How can you find out if it's alpha-1 or asthma?
An allergy and asthma specialist would be a great place to start. Even though there are different types of asthma, and everyone has different symptoms and treatment plans, asthma specialists still know when "something doesn't seem right." There are some basic things doctors will check if a patient can't seem to get their asthma under control:
- Is your inhaler technique correct?
- How many days a week do you take your controller inhaler?
- Are you able to avoid your asthma triggers?
- Are there any asthma triggers in your home?
- Any asthma triggers at work?
- Is it time for a biologic?
If none of those things help, the doctor may look for other causes of a patient's asthma symptoms. My friend is a doctor, and he said when he can't figure out what is wrong with a patient, he has to think like a detective. He tries to put the pieces together to try to solve the puzzle. And some puzzles are harder than others!
The experts at the Alpha-1 Foundation can provide free and confidential testing as part of their research projects. They also have a research registry to help them develop treatments for alpha-1 and a cure. Genetic counselors are also available to help patients.1
Has anyone been diagnosed with asthma, only to find out later that it was alpha-1 antitrypsin deficiency?
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